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dbVar

Database of genomic structural variation

nsv3909454

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:95,676

Description:
See descriptions for individual calls in download files

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 320 SVs from 54 studies. See in: genome view

Remapped(Score: Perfect):80,238,802-80,334,477

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3909454	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	80,238,802	80,334,477
nsv3909454	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	80,632,582	80,728,257

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15776176	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000848775.2, VCV000688084.2	1
nssv17969537	copy number loss	Multiple	Multiple	not specified	Uncertain significance	ClinVar	RCV002053001.3, VCV001527715.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15776176	Remapped	Perfect	NC_000012.12:g.(?_ 80238802)_(8033447 7_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,238,802	80,334,477
nssv17969537	Remapped	Perfect	NC_000012.12:g.(?_ 80238802)_(8033447 7_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	80,238,802	80,334,477
nssv15776176	Submitted genomic		NC_000012.11:g.(?_ 80632582)_(8072825 7_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	80,632,582	80,728,257
nssv17969537	Submitted genomic		NC_000012.11:g.(?_ 80632582)_(8072825 7_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	80,632,582	80,728,257

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15776176	GRCh37: NC_000012.11:g.(?_80632582)_(80728257_?)del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV000848775.2, VCV000688084.2	1
nssv17969537	GRCh37: NC_000012.11:g.(?_80632582)_(80728257_?)del	copy number loss	germline	not specified	Uncertain significance	ClinVar	RCV002053001.3, VCV001527715.3

No genotype data were submitted for this variant

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